SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.700 GeneticVariation disease UNIPROT Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. 25959673 2015
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation disease UNIPROT Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. 25959673 2015
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.700 GeneticVariation disease UNIPROT Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. 25525168 2014
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.700 GeneticVariation disease UNIPROT Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. 23643385 2013
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 Biomarker disease CTD_human Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations. 22515166 2012
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 Biomarker disease CTD_human Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease. 20864674 2010
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation disease UNIPROT Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1. 19336478 2009
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation disease UNIPROT A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. 19353847 2009
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation disease UNIPROT The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. 17189203 2007
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. 15210538 2004
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. 14994243 2004
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation disease UNIPROT Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. 14994243 2004
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation disease UNIPROT Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 11673586 2001
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation disease UNIPROT Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. 10749987 2000
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GeneticVariation disease UNIPROT Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 10545952 1999
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 GermlineCausalMutation disease ORPHANET Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 10545952 1999
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.700 Biomarker disease CTD_human
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.700 CausalMutation disease CLINVAR
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 CausalMutation disease CLINVAR
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.600 GeneticVariation disease BEFREE In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N). 31028847 2019